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Gene Protein AA change dbSNP Phenotype Chain Detail
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1 RFXANK O14593 p.Asp121Val rs104894709 BARE LYMPHOCYTE SYNDROME, TYPE II, COMPLEMENTATION GROUP B [MIM:603200#0004]
3so8
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 )